ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
EHMT1 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1983 | 2215 | |
COL5A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2630 | 3414 | |
TSC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4737 | 4786 | |
ABCA2 | - | - |
GRCh38 GRCh37 |
315 | 409 | |
ABO | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 82 | |
ADAMTS13 | - | - |
GRCh38 GRCh38 GRCh37 |
731 | 792 | |
ADAMTSL2 | - | - |
GRCh38 GRCh37 |
275 | 312 | |
AGPAT2 | - | - |
GRCh38 GRCh37 |
190 | 251 | |
AJM1 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
AK8 | - | - |
GRCh38 GRCh37 |
43 | 84 |
There are 522 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 14, 2010 | RCV000142636.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024